Hs04014916_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49776591 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 160
• Gene Name: adaptor related protein complex 2 alpha 1 subunit
• Gene Aliases: ADTAA, AP2-ALPHA, CLAPA1
• Location: Chr.19:49766923-49807114 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP2A1	NM_014203.2			NP_055018.2
	NM_130787.2			NP_570603.2
	AK124343.1
	AK302005.1
	AL136925.1			CAB66859.1
	BC014214.2			AAH14214.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	FGF21 SNAR-A6 SNAR-C4 CGB3 LOC105447645 SNAR-B1 SNAR-B2 GFY SNORD35B FUZ MIR4751 SNAR-C2 MIR4749 SEC1P CPT1C RPL13A SNAR-G2 CARD8-AS1 SNAR-A14 LOC101059948 SNAR-C1 TEAD2 SNORD33 CABP5 SNAR-A5 GRWD1 PNKP SLC6A16 MIR4750 CGB7 NTN5 SIGLEC11 SNAR-C5 MIR6800 DHDH C19orf73 SNAR-A9 ADM5 SNAR-G1 AP2A1 LOC105372430 BCAT2 CCDC155 SNAR-A11 CGB8 PTOV1-AS1 TSKS MED25 ALDH16A1 SNAR-A1 HSD17B14 KCNJ14 C19orf68 SYNGR4 SNORD32A IL4I1 FAM83E DKKL1 SLC17A7 BSPH1 SNAR-A13 PTH2 TULP2 ELSPBP1 SPHK2 LIG1 RRAS SNAR-A7 CA11 MIR6798 NTF4 SNAR-C3 ZNF114 RCN3 IRF3 LOC101928295 SNRNP70 SNAR-D PRR12 PLA2G4C-AS1 CYTH2 TMEM143 NUP62 RPL18 SNAR-A2 PPP1R15A PRRG2 MIR5088 MIR150 KCNA7 FUT1 ZNF473 LMTK3 CARD8 PIH1D1 LOC100287477 SNAR-A4 PTOV1 TBC1D17 PTOV1-AS2 SNAR-A10 SIGLEC16 VRK3 NUCB1 IZUMO1 GYS1 FCGRT LIN7B KDELR1 PRMT1 BAX MIR4324 FUT2 BCL2L12 PLEKHA4 SNORD34 ATF5 DBP CD37 SPACA4 MAMSTR RASIP1 SNAR-A12 RPS11 SNAR-A8 EMP3 FLT3LG MIR6799 PLA2G4C SNORD35A SCAF1 HRC RUVBL2 FLJ26850 NUCB1-AS1 GRIN2D FTL CGB1 SNAR-A3 LHB CGB5 TRPM4 PPFIA3 CGB2 AKT1S1 SULT2B1 CCDC114 NOSIP
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	PTOV1-AS1 TSKS MED25 PTOV1 IRF3 MIR6800 PRR12 PTOV1-AS2 ADM5 MIR5088 AP2A1 MIR6799 FUZ MIR4749 SCAF1 CPT1C RRAS PRMT1 BCL2L12
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	PTOV1-AS1 TSKS MED25 PTOV1 MIR6800 ATF5 TBC1D17 IL4I1 PTOV1-AS2 NUP62 AP2A1 MIR6799 FUZ MIR4751 PNKP MIR4749 AKT1S1 MIR4750
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	IRF3 MIR6800 PRR12 ATF5 NUP62 ADM5 PRRG2 MIR5088 AP2A1 MIR6799 FUZ MIR4751 MIR4749 SCAF1 CPT1C PTOV1-AS1 TSKS MED25 PTOV1 TBC1D17 IL4I1 PTOV1-AS2 PNKP AKT1S1 RRAS PRMT1 MIR4750 BCL2L12 NOSIP
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	RCN3 IRF3 MIR6800 PRR12 RPS11 ADM5 PRRG2 SNORD35B MIR5088 MIR150 AP2A1 MIR6799 FUZ SNORD35A SCAF1 CPT1C RPL13A PTOV1-AS1 TSKS MED25 SNORD32A SNORD33 FCGRT RRAS PRMT1 BCL2L12 NOSIP SNORD34

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
Golgi to endosome transport
endocytosis
microtubule-based movement
antigen processing and presentation of exogenous peptide antigen via MHC class II
negative regulation of epidermal growth factor receptor signaling pathway
ephrin receptor signaling pathway
regulation of defense response to virus by virus
Wnt signaling pathway, planar cell polarity pathway
clathrin-mediated endocytosis
negative regulation of hyaluronan biosynthetic process

Function(s)

protein binding
protein C-terminus binding
protein transporter activity
protein kinase binding
protein complex binding
clathrin adaptor activity